ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.950del (p.Val317fs)

dbSNP: rs2125503248
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002002455 SCV002237004 pathogenic Biotinidase deficiency 2021-03-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val337Glyfs*26) in the BTD gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 207 amino acid(s) of the BTD protein. For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the BTD protein. Other variant(s) that disrupt this region (p.Thr351Lysfs*12) have been determined to be pathogenic (PMID: 12359137, 15776412, 20083419). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant has been observed in individual(s) with profound biotinidase deficiency (PMID: 22698809). This variant is not present in population databases (ExAC no frequency).

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